Abstract
The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Alleles
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Blood Platelets / metabolism
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Child
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Codon, Nonsense*
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DNA Mutational Analysis
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Exons / genetics
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Factor XI / genetics*
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Factor XI Deficiency / genetics*
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Heterozygote
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Humans
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Lymphocytes / metabolism
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Male
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RNA, Messenger / metabolism*
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Analysis, DNA
Substances
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Codon, Nonsense
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RNA, Messenger
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Factor XI